Catalog

CACH syndrome

No MMS code

Link to WHO Definition

CACH syndrome – http://id.who.int/icd/entity/1574637700

CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) is a recessive autosomal leukoencephalopathy characterised by an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, a diffuse involvement of the white matter on cerebral MRI with cavitation, and neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy.